Academic Journal
Diagnosis, treatment, and management recommendations for cleidocranial dysplasia: A modified Delphi panel.
| Τίτλος: | Diagnosis, treatment, and management recommendations for cleidocranial dysplasia: A modified Delphi panel. |
|---|---|
| Συγγραφείς: | Hoover-Fong J; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, United States.; Greenberg Center for Skeletal Dysplasias, Johns Hopkins Hospital, Baltimore, MD 21205, United States., Anderson-Cermin C; University of Minnesota School of Dentistry, Minneapolis, MN 55455, United States.; Gillette Children's Health, Saint Paul, MN 55101, United States., Artinian F; Departments of Newborn Medicine and Pediatric Hospital Medicine, Akron Children's Hospital, Akron, OH 44308, United States., Chaushu S; Hadassah Medical Center, Faculty of Dental Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel., Harrison M; Department of Paediatric Dentistry, Guy's and St Thomas' NHS Foundation Trust, London SE1 7EH, United Kingdom., Jan de Beur SM; Division of Endocrinology and Metabolism, Department of Medicine, University of Virginia School of Medicine, Charlottesville, VA 22908, United States., White KK; Department of Orthopedics, University of Colorado School of Medicine, Aurora, CO 80045, United States.; Department of Orthopedics, Children's Hospital Colorado, Aurora, CO 80045, United States., Wosnik K; Bristol Health, Orem, UT 84057, United States.; CCD Smiles Foundation, Orem, UT 84057, United States., Ene N; Costello Medical, Boston, MA 02108, United States., Wegman ME; Costello Medical, Boston, MA 02108, United States., Brown M; Costello Medical, Boston, MA 02108, United States., Zinn IM; Department of Plastic and Reconstructive Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States. |
| Πηγή: | Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2026 Aug 21; Vol. 41 (9), pp. 972-987. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE |
| Imprint Name(s): | Publication: January 2024- : [Oxford] : Oxford University Press Original Publication: New York : Mary Ann Liebert, Inc., c1986- |
| Ιατρικοί όροι (MeSH): | Cleidocranial Dysplasia*/diagnosis , Cleidocranial Dysplasia*/therapy , Delphi Technique*, Humans ; Adult ; Female ; Child ; Consensus |
| Περίληψη: | Cleidocranial dysplasia is a rare genetic condition negatively impacting skeletal development. Clinical guidelines for patients, their family members, and clinicians on the diagnosis, treatment, and management of this disease are lacking. The aim of this study was to align expert opinion on standard of care (SoC) medical recommendations for patients with cleidocranial dysplasia, primarily for adults and children (≥2 yrs of age). A modified Delphi panel comprised of a 3-round survey was used to determine consensus among a multidisciplinary team of 13 experts with experience treating patients with cleidocranial dysplasia. Statements for Round 1 were generated from a targeted literature review and received input from a steering committee of 2 experts within the panel. Expert discussion held after Round 2 helped refine statements for Round 3; the steering committee also reviewed statements before dissemination in each round. The consensus threshold was pre-defined as ≥70% agreement or disagreement for Likert-scale statements or ≥70% of experts selecting the same response for a multiple-choice option. For statements wherein consensus was measured, 79% (n/N = 26/33), 91% (n/N = 21/23), and 100% (n/N = 12/12) of statements reached consensus, respectively, in Round 1, Round 2, and Round 3. Overall, consensus was reached on 37 SoC recommendations for patients with cleidocranial dysplasia: 9 regarding diagnosis, 24 regarding treatment and management, consisting of 7 dental/orthodontic and 17 other medical (non-dental/orthodontic), and 4 regarding care providers. The expert consensus reached in this panel informs the first comprehensive best practice guidelines for patients, their family members, and healthcare providers to diagnose, treat, and manage the dental/orthodontic and other medical complications of cleidocranial dysplasia. (© The Author(s) 2026. Published by Oxford University Press on behalf of the American Society for Bone and Mineral Research.) |
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| Grant Information: | CCD Smiles Foundation |
| Contributed Indexing: | Keywords: RUNX2; cleidocranial dysplasia; dental; modified Delphi panel; skeletal; standard of care recommendations Local Abstract: [plain-language-summary] Cleidocranial dysplasia is a rare bone and dental disease that lacks healthcare guidelines for diagnosis, treatment, and management. We collected opinions from 13 experts across different specialties to establish standard of care recommendations. Feedback was gathered through 3 rounds of surveys, wherein experts reviewed statements about cleidocranial dysplasia. Statements were edited based on feedback until majority agreement was reached, with the final recommendations covering diagnosis, dental/orthodontic and other medical treatment and management, and care providers. Ultimately, patients with cleidocranial dysplasia, their families, and clinicians may use this paper as a resource to help improve quality of care. |
| Entry Date(s): | Date Created: 20260108 Date Completed: 20260829 Latest Revision: 20260831 |
| Update Code: | 20260831 |
| PubMed Central ID: | PMC13525201 |
| DOI: | 10.1093/jbmr/zjag004 |
| PMID: | 41504382 |
| Βάση Δεδομένων: | MEDLINE |
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